Abstract
Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.
Original language | English |
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Pages (from-to) | 1373-1376 |
Number of pages | 4 |
Journal | Neurology |
Volume | 54 |
Issue number | 6 |
Publication status | Published - Mar 28 2000 |
Keywords
- CAV3 gene HyperCKemia
- Caveolin-3
ASJC Scopus subject areas
- Neuroscience(all)